Blood Test For ALS

Amyotrophic lateral sclerosis (ALS) is a fatal neuromuscular disease which afflicts approximately 30,000 individuals in North America, with 5,000 new cases per year. In ALS, also known as Lou Gehrig's disease, the muscles that control movement, speech, swallowing, and respiration weaken and atrophy due to degeneration of motor nerve cells that supply them from the spinal cord and brain. Half of the affected individuals die within 3 years, and survival over 5 years is less than 20%. ALS is currently incurable. About 20% of familial ALS cases are associated with mutations in the gene encoding superoxide dismutase 1 (SOD1). Evidence is accumulating that all types of ALS – familial and sporadic – are associated with SOD1 misfolding, oxidation, and aggregation. Neural deposits of aggregated misfolded SOD1 have been detected in familial ALS, and also in sporadic ALS, and biochemical evidence of SOD1 misfolding has also been detected in sporadic ALS.

Amorfix has developed an antibody that targets only the misfolded form of SOD1 (Figure 1). Misfolded SOD1 protein has been detected in the ALS brain and spinal cord. Proof of concept studies have shown the presence of misfolded SOD1 in the blood of ALS patients.

Figure 1. Detection of aggregated SOD1 but not dimeric SOD1

At the present time, clinicians must rely on a combination of clinical findings and imaging to confirm the diagnosis, as there is no diagnostic test or biomarker at their disposal. The Company believes that the availability of a reliable blood test (Figure 2) would represent an important leap in the management of this devastating disease, allowing clinicians to conduct better clinical studies, and eventually begin treatment earlier.

ALS Diagnostic

Figure 2. Development of blood test that measure misfolded SOD1 in blood